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Autism Disorder: Genetic Factors

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Genetic studies have the potential to find the underlying biological cause of autism spectrum disorder and other neuropsychiatric disorders.

Medically reviewed by

Dr. Nagaraj

Published At October 26, 2023
Reviewed AtOctober 26, 2023

Introduction:

Autism spectrum disorder is a severe neuropsychiatric condition in which there is an impairment in social and communication behavior, as well as restricted interests in all activities. Approximately one percent of children in the United States meet the current diagnostic criteria for autism spectrum disorder, with the onset of symptoms in early childhood persisting throughout their life. The degree of severity increases gradually with the outcome of challenges affecting families to get confronted with social, educational, and occupational problems. The treatment options are also very limited as no pharmacological treatment has been proven to work completely with a reduction in autism symptoms or their frequent cognitive comorbidities.

How Do Genetic Factors Influence Autism Disorder Risk?

Genetic disturbance or derangement plays a major role in a newly born baby with a mental disorder. Genetic variants differ in nature and in the frequency at which they occur in the human population and inherited genetic variants that are passed from parents to children can occur at all frequencies, from common to very rare. Genetic abnormalities arising newly in the offspring that are not seen in a carrier's parents are typically rare. Genetic studies have strongly suggested that autism disorder generally occurs due to an alteration of the amino acid sequence in a protein or a functional RNA (ribonucleic acid) or by producing a change in the circumstances or timing disturbance.

What Is Autism Disorder?

Autism spectrum disorder is a developmental disorder in which the affected child may face difficulty in social interaction, communication, and behavior. The main and earliest sign to detect an autistic child is they will not be able to make eye contact with anyone and they do not listen or respond to any commands. About 30 percent of children with this disorder have an intellectual disability and are likely to have the disorder when someone in the family has a history of autism. Early screening and diagnosis can ensure that children receive the better service they need for a better outcome.

What Are the Causes of Autism Disorder?

The cause is still unknown, but the most accepted reason behind autism is an abnormality in the brain structure and function. The genetic cause is also considered to be the reason as the genetics of autism is complex and cannot be determined whether it is rare mutations with major effects or if it is multi-gene interactions that occur in common genetic variants. The disruption mainly occurs in the early stages of fetal development due to various environmental factors that affect the gene function and brain cell communication process. Children with tuberous sclerosis and Fragile X syndrome have a considerable tendency to develop autism. Also, when the parents conceive at a later age, the baby is prone to autism.

How Is Autism Spectrum Disorder Diagnosed?

Autism can be detected from the age of two and is generally diagnosed by skilled professionals, which include a pediatrician, neuropsychologist, and developmental therapists; however, there are many children who cannot be diagnosed as an autistic children because some might have different signs and symptoms. The diagnosis must involve two steps, and they are:

  1. Developmental Screening: A neuropsychologist and developmental therapist detect the activity and behavioral changes of the child at regular intervals at the age of nine months, 18 months, 24 months, and 30 months. If there is any developmental delay found in the child, it has to be diagnosed with the developmental screening process, but those who are at higher risk, like premature birth and family history, should be checked earlier.

  2. Other Diagnostic Evaluation: Genetic testing, hearing and vision screening, neurological testing, and other medical tests help detect and analyze if there is a problem in the child's brain development.

How to Treat Autism?

There is no permanent treatment for autism spectrum disorder, but it can be treated and managed to some extent by:

  • Treatment Through Medication: Antipsychotic medicines like Risperdal, Melatonin, and others are recommended to manage serious behavioral problems like self-harm, aggression, sleep apnea, and tantrums. However, there is no permanent solution for autistic children.

  • Diet for Autistic Child: An autistic child's diet must contain high quantities of omega-3 fatty acids and vitamins along with a diet free of gluten, present in wheat, and casein, present in milk, which is often recommended for autistic children. 30 % of autism patients consume non-food items like paper or dirt, and hence, parents must be attentive and careful.

Some of the home treatments have also been found to be useful for the treatment of autism, and they are:

Behavior and Communication Approaches: Most of the time, communication is a major concern, and hence the parents should:

  • Use their child's name multiple times to make them understand that they are being referred to when calling the name.

  • Keep the background sound as minimal as possible.

  • Start with a slow and steady conversation.

  • Use simple gestures to communicate with the child.

  • Notice the expression of the autistic children if they want to say something.

  • Speak slowly and make them focus on the lip movement so that the autistic child understands and learns the words.

Parent's Education and Training: The parents can educate themselves about the facts and figures about the disorder by joining the local communities to learn how to live with autistic children.

  • Makaton and PECS (Picture Exchange Communication System): Makaton is an alternative communication method in which the parents are taught how to communicate with the children through signs and symbols.

  • Alternative Therapies: In some cases, a few alternative therapies are used, like chelation therapy, hyperbaric oxygen therapy, occupational therapy, sensory integration therapy, and dance movement therapy for autistic children, which do not have any scientific evidence.

Conclusion:

Autistic spectrum disorder has no cure, but few therapies can help to a great extent to live a better life. To minimize the risk factor of autism, the parents, right from the time of pregnancy, should take care of a proper diet, exercise, minimize the use of electromagnetic rays, and take proper doses of vaccines. Early detection and behavioral management of children with autism disorder is fruitful for both survivors and parents.

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Dr. Nagaraj
Dr. Nagaraj

Diabetology

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